Neves, JFMartins, CCordeiro, AINeves, CPlagnol, VCurtis, JFabre, MBibi, SBorrego, LMMoshous, DNejentsev, SGilmour, K2021-05-272021-05-272019J Pediatr Hematol Oncol . 2019 May;41(4):328-333http://hdl.handle.net/10400.17/3710X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SCID with delayed onset, moderate susceptibility to infections, and nodular regenerative hyperplasia. He presents with preserved STAT5 tyrosine phosphorylation in response to IL-15 stimulation but not in response to IL-2 and IL-7, resulting in the NK phenotype.engB-LymphocytesChild, PreschoolHumansHyperplasiaInterleukin Receptor Common gamma SubunitInterleukin-15Killer Cells, NaturalMaleMutation, MissensePhenotypePhosphorylationSTAT5 Transcription FactorT-LymphocytesX-Linked Combined Immunodeficiency DiseasesHDE PEDjournal article10.1097/MPH.0000000000001232